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Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3
PURPOSE: To identify the genetic defect in Spanish families with Usher syndrome (USH) and probable involvement of the CLRN1 gene. METHODS: DNA samples of the affected members of our cohort of USH families were tested using an USH genotyping array, and/or genotyped with polymorphic markers specific f...
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Autors principals: | , , , , , , , , , , , , |
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Format: | Artigo |
Idioma: | Inglês |
Publicat: |
Molecular Vision
2012
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Matèries: | |
Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3538041/ https://ncbi.nlm.nih.gov/pubmed/23304067 |
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